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Michel A.A.P. Willemsen
Michel A.A.P. Willemsen
Professor of pediatric neurology, Radboudumc, Nijmegen, The Netherlands
Verified email at radboudumc.nl
Title
Cited by
Cited by
Year
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
PB Mills, E Struys, C Jakobs, B Plecko, P Baxter, M Baumgartner, ...
Nature medicine 12 (3), 307-309, 2006
5702006
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
4652007
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ...
Brain 133 (3), 655-670, 2010
4232010
Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study
F Amant, K Van Calsteren, MJ Halaska, MM Gziri, W Hui, L Lagae, ...
The lancet oncology 13 (3), 256-264, 2012
3622012
Development and developmental disorders of the human cerebellum
HJ ten Donkelaar, WFA den Dunnen, M Lammens, P Wesseling, ...
Clinical neuroembryology: development and developmental disorders of the …, 2023
3072023
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
LELM Vissers, KJ Van Nimwegen, JH Schieving, EJ Kamsteeg, ...
Genetics in Medicine 19 (9), 1055-1063, 2017
2722017
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
BS Budde, Y Namavar, PG Barth, BT Poll-The, G Nürnberg, C Becker, ...
Nature genetics 40 (9), 1113-1118, 2008
2552008
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)
L van den Heuvel, K Assink, M Willemsen, L Monnens
Human genetics 111, 544-547, 2002
2452002
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ...
Brain 133 (6), 1810-1822, 2010
2342010
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581-585, 2012
2252012
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
L Brun, LH Ngu, WT Keng, GS Ch'Ng, YS Choy, WL Hwu, WT Lee, ...
Neurology 75 (1), 64-71, 2010
2252010
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ...
Nature genetics 49 (2), 223-237, 2017
2142017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
T Wassenberg, M Molero-Luis, K Jeltsch, GF Hoffmann, B Assmann, ...
Orphanet journal of rare diseases 12, 1-21, 2017
2122017
Clinical practice: swallowing problems in cerebral palsy
CE Erasmus, K van Hulst, JJ Rotteveel, MAAP Willemsen, PH Jongerius
European journal of pediatrics 171, 409-414, 2012
2052012
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations
AL Gloyn, K Noordam, MAAP Willemsen, S Ellard, WWK Lam, ...
diabetes 52 (9), 2433-2440, 2003
2022003
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
MH Willemsen, LEL Vissers, MAAP Willemsen, BWM van Bon, T Kroes, ...
Journal of medical genetics 49 (3), 179-183, 2012
1882012
Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline
NJH van Os, N Roeleveld, CMR Weemaes, MCJ Jongmans, ...
Clinical genetics 90 (2), 105-117, 2016
1832016
eIF2B-related disorders: antenatal onset and involvement of multiple organs
MS Van Der Knaap, CGM Van Berkel, J Herms, R Van Coster, ...
The American Journal of Human Genetics 73 (5), 1199-1207, 2003
1812003
Clinical spectrum of ataxia-telangiectasia in adulthood
MMM Verhagen, WF Abdo, M Willemsen, FBL Hogervorst, D Smeets, ...
Neurology 73 (6), 430-437, 2009
1782009
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
1752012
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